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  • 标题:A case of late diagnosis of Gaucher disease with lung involvement (case study)
  • 作者:Doina Tofolean ; Tatiana Adam ; Laura Mazilu
  • 期刊名称:ARS Medica Tomitana
  • 电子版ISSN:1841-4036
  • 出版年度:2015
  • 卷号:21
  • 期号:2
  • 页码:63-66
  • DOI:10.1515/arsm-2015-0022
  • 语种:English
  • 出版社:Walter de Gruyter GmbH
  • 摘要:The present authors report the case of an adult male with no medical history, who developed prolonged fever of unknown cause, progression of anemia and lung fibrosis. A hematological disease was suspected and further investigations were done. The bone marrow aspirate raised the suspicion of Gaucher’s disease. The positive diagnosis was Gaucher’s disease with lung involvement (pulmonary fibrosis and pulmonary hypertension), and cardiac involvement (restrictive cardiomyopathy). Clinical evolution was unfavorable, and the patient died of cardiorespiratory failure. In conclusion, the present case report illustrates a late diagnosis of Gaucher’s disease with lung and cardiac involvement resulting in death in a short period
  • 关键词:Gaucher disease ; pulmonary fibrosis ; pulmonary hypertension
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